title: Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7).
mesh_terms: D000818:Animals; D001483:Base Sequence / Q000235:genetics; D020440:Gene Duplication; D014644:Genetic Variation / Q000235:genetics*; D006801:Humans; D006899:Mixed Function Oxygenases / Q000235:genetics*; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D000074437:Peroxisomal Targeting Signal 2 Receptor; D010641:Phenotype; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*; D012035:Refsum Disease / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics
chemical_list: C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear; D006899:Mixed Function Oxygenases; C102623:PHYH protein, human